Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.

Bocquet, Béatrice

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations. [electronic resource] - Molecular vision 2013 - 2487-500 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1090-0535


Adolescent
Adult
Consanguinity
Exons
Eye Proteins--genetics
Female
Genes, Recessive
Genotyping Techniques
Homozygote
Humans
Introns
Male
Middle Aged
Mutation
Pedigree
Polymorphism, Genetic
Retinitis Pigmentosa--diagnosis
Sequence Analysis, DNA
Severity of Illness Index